Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion
| Autor: | Pamela J. Shaw, John P Franklin, James J.P. Alix, David Paling, Johnathan Cooper-Knock, Priya Shanmugarajah, Tobias Moll, Marios Hadjivissiliou, Nicholas J. Beauchamp, Christopher J McDermott, Michael Pattrick, Helia Ghahremani Nezhad, Thomas M Jenkins |
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| Rok vydání: | 2020 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty business.industry Cytoplasmic inclusion Late stage medicine.disease nervous system diseases 03 medical and health sciences 0302 clinical medicine Neurology mental disorders Cohort Spinocerebellar ataxia Medicine Neurology (clinical) Age of onset Amyotrophic lateral sclerosis 10. No inequality business Trinucleotide repeat expansion 030217 neurology & neurosurgery |
| Zdroj: | Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 22:579-582 |
| ISSN: | 2167-9223 2167-8421 |
| Popis: | Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat expansion of ATXN2 who presented with simultaneous symptoms of ALS and SCA2. Our case demonstrates that the clinical dichotomy between SCA2 and ATXN2-ALS is false. We suggest instead that CAG-repeat expansion length determines the timing of SCA2 clinical symptoms relative to onset of ALS; consistent with this age of onset of SCA2 but not ATXN2-ALS, is dependent upon expansion length. Review of the literature and our local cohort provides evidence for occurrence of ALS in late stage SCA2, which may be under-recognised by clinicians who think of the two diseases as distinct. |
| Databáze: | OpenAIRE |
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